S125P (p.Ser125Pro) variant of SPI1 (Transcription factor PU.1)
S125P (p.Ser125Pro) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S125P (p.Ser125Pro) variant details
- p.Ser125Pro
- cosmic curated COSV57046
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -0.96
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available